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孕早期超声检测胎儿颈项透明层联合血清β-HCG和PAPP-A检测用于唐氏综合征筛查的价值研究 被引量:1

Study on the value of ultrasound detection of fetal nuchal translucency combined with serumβ-HCG and PAPP-A detection in early pregnancy for Down's syndrome screening
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摘要 目的探讨孕早期超声检测胎儿颈项透明层(NT)联合血清人绒毛膜促性腺激素β亚基(β-HCG)和妊娠相关血浆蛋白-A(PAPP-A)检测用于唐氏综合征筛查的价值。方法选取2019~2022年在河源市妇幼保健院妇产科进行孕检的20565例早期妊娠女性作为研究对象,所有纳入研究的孕妇都在孕11~13+6周进行常规超声检查以及相关的超声软指标检测,同时检测血清PAPP-A、β-HCG,并具有完整妊娠结局。对比NT检测、血清检测以及两者联合检测的诊断价值。建立受试者工作特征(ROC)曲线模型,综合评价三种筛查方法的准确性。结果以羊水染色体核型分析为金标准,最终确诊唐氏综合征胎儿22例。血清检测筛查出唐氏综合征高危妊娠1440例,检出率为86.4%(19/22);NT检测筛查出唐氏综合征高危妊娠149例,检出率为31.8%(7/22);联合检测筛查出唐氏综合征高危妊娠436例,检出率为95.5%(21/22)。联合检测的灵敏度、阳性预测值、约登指数均高于NT检测(P<0.05);联合检测的特异度、准确度、阳性预测值、约登指数均高于血清检测(P<0.05)。ROC曲线分析显示,联合检测的曲线下面积(AUC)高于NT检测和血清检测。结论孕早期NT检测联合血清检测用于唐氏综合征筛查的效果比单独NT检测和血清检测效果更佳。 Objective To explore the value of ultrasonic detection of fetal nuchal translucency(NT)combined with serumβ-subunit of human chorionic gonadotropin(β-HCG)and pregnancy-associated plasma protein-A(PAPP-A)detection in early pregnancy for Down's syndrome screening.Methods A total of 20565 early pregnant women who underwent pregnancy examinations in the obstetrics and gynecology department of Heyuan Maternal and Child Health Hospital from 2019 to 2022 were selected as the research objects.All pregnant women included in the study underwent routine ultrasound examinations and related ultrasound soft index detections between 11~13+6 week of pregnancy,as well as the detection of serum PAPP-A andβ-hCG,and had complete pregnancy outcomes.The diagnostic value of NT detection,serum detection and combined detection of the two was compared.The receiver operating characteristic(ROC)curve model was established to comprehensively evaluate the accuracy of the three screening methods.Results With amniotic fluid chromosome karyotype analysis as the gold standard,22 fetuses with Down's syndrome were finally diagnosed.A total of 1440 cases of high-risk pregnancy with Down's syndrome were screened out by serum detection,and the detection rate was 86.4%(19/22);149 cases of high-risk pregnancy with Down's syndrome were screened out by NT detection,and the detection rate was 31.8%(7/22);436 cases of high-risk pregnancy with Down's syndrome were screened out by combined detection,and the detection rate was 95.5%(21/22).The sensitivity,positive predictive value and Youden index of combined detection were higher than those of NT detection(P<0.05).The specificity,accuracy,positive predictive value and Youden index of combined detection were higher than those of serum detection(P<0.05).ROC curve analysis showed that the area under the curve(AUC)of combined detection was higher than that of NT detection and serum detection.Conclusion The effect NT detection combined with serum detection for Down's syndrome screening is better than that of si
作者 陈继鸿 陈凯佳 CHEN Ji-hong;CHEN Kai-jia(Medical Genetics Laboratory,Heyuan Maternal and Child Health Hospital,Heyuan 517000,China.;不详)
出处 《医师在线》 2024年第8期7-10,共4页 Journal of Doctors Online
关键词 孕早期 NT 血清检测 联合 唐氏综合征筛查 Early pregnancy NT Serum detection Combined Down's syndrome screening
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